Canonical Allele Identifier: CA430241290

Linked Data

MyVariant Identifiers: chr2:g.179407998G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543271G>T , CM000664.2:g.178543271G>T GRCh38
NC_000002.11:g.179407998G>T , CM000664.1:g.179407998G>T GRCh37
NC_000002.10:g.179116244G>T NCBI36
NG_011618.3:g.292532C>A , LRG_391:g.292532C>A
NG_051363.1:g.25445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88998C>A (TTN) ENSP00000343764.6:p.Leu29666=
ENST00000342175.11:c.70083C>A (TTN) ENSP00000340554.6:p.Leu23361=
ENST00000359218.10:c.69882C>A (TTN) ENSP00000352154.5:p.Leu23294=
ENST00000342175.10:c.70083C>A (TTN) ENSP00000340554.6:p.Leu23361=
ENST00000342992.10:c.88998C>A (TTN) ENSP00000343764.6:p.Leu29666=
ENST00000359218.9:c.69882C>A (TTN) ENSP00000352154.5:p.Leu23294=
ENST00000460472.6:c.69507C>A (TTN) ENSP00000434586.1:p.Leu23169=
ENST00000589042.5:c.96702C>A (TTN) MANE Select ENSP00000467141.1:p.Leu32234=
ENST00000591111.5:c.91779C>A (TTN) ENSP00000465570.1:p.Leu30593=
ENST00000615779.4:c.91779C>A (TTN) ENSP00000483597.1:p.Leu30593=
NM_001256850.1:c.91779C>A (TTN) NP_001243779.1:p.Leu30593=
NM_001267550.2:c.96702C>A (TTN) MANE Select NP_001254479.2:p.Leu32234=
NM_003319.4:c.69507C>A (TTN) NP_003310.4:p.Leu23169=
NM_133378.4:c.88998C>A (TTN) NP_596869.4:p.Leu29666=
NM_133432.3:c.69882C>A (TTN) NP_597676.3:p.Leu23294=
NM_133437.4:c.70083C>A (TTN) NP_597681.4:p.Leu23361=
NR_038271.1:n.446+19635G>T (TTN-AS1)
NR_038272.1:n.2043+910G>T (TTN-AS1)
XM_011511729.1:c.95799C>A (TTN) XP_011510031.1:p.Leu31933=
XM_011511730.1:c.69693C>A (TTN) XP_011510032.1:p.Leu23231=
XM_011511731.1:c.69552C>A (TTN) XP_011510033.1:p.Leu23184=
XM_017004819.1:c.95595C>A (TTN) XP_016860308.1:p.Leu31865=
XM_017004820.1:c.90993C>A (TTN) XP_016860309.1:p.Leu30331=
XM_017004821.1:c.90990C>A (TTN) XP_016860310.1:p.Leu30330=
XM_017004822.1:c.88032C>A (TTN) XP_016860311.1:p.Leu29344=
XM_017004823.1:c.69648C>A (TTN) XP_016860312.1:p.Leu23216=
XM_024453094.1:c.91143C>A (TTN) XP_024308862.1:p.Leu30381=
XM_024453095.1:c.91140C>A (TTN) XP_024308863.1:p.Leu30380=
XM_024453096.1:c.90573C>A (TTN) XP_024308864.1:p.Leu30191=
XM_024453097.1:c.87915C>A (TTN) XP_024308865.1:p.Leu29305=
XM_024453098.1:c.87834C>A (TTN) XP_024308866.1:p.Leu29278=
XM_024453099.1:c.69597C>A (TTN) XP_024308867.1:p.Leu23199=
XM_024453100.1:c.59451C>A (TTN) XP_024308868.1:p.Leu19817=